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DOI10.1073/pnas.2020803118
The history and evolution of the Denisovan-EPAS1 haplotype in Tibetans
Zhang X.; Witt K.E.; Bañuelos M.M.; Ko A.; Yuan K.; Xu S.; Nielsen R.; Huerta-Sanchez E.
发表日期2021
ISSN0027-8424
卷号118期号:22
英文摘要Recent studies suggest that admixture with archaic hominins played an important role in facilitating biological adaptations to new environments. For example, interbreeding with Denisovans facilitated the adaptation to high-altitude environments on the Tibetan Plateau. Specifically, the EPAS1 gene, a transcription factor that regulates the response to hypoxia, exhibits strong signatures of both positive selection and introgression from Denisovans in Tibetan individuals. Interestingly, despite being geographically closer to the Denisova Cave, East Asian populations do not harbor as much Denisovan ancestry as populations from Melanesia. Recently, two studies have suggested two independent waves of Denisovan admixture into East Asians, one of which is shared with South Asians and Oceanians. Here, we leverage data from EPAS1 in 78 Tibetan individuals to interrogate which of these two introgression events introduced the EPAS1 beneficial sequence into the ancestral population of Tibetans, and we use the distribution of introgressed segment lengths at this locus to infer the timing of the introgression and selection event. We find that the introgression event unique to East Asians most likely introduced the beneficial haplotype into the ancestral population of Tibetans around 48, 700 (16, 000-59, 500) y ago, and selection started around 9, 000 (2, 500-42, 000) y ago. Our estimates suggest that one of the most convincing examples of adaptive introgression is in fact selection acting on standing archaic variation. © 2021 National Academy of Sciences. All rights reserved.
英文关键词Adaptation; Admixture; Archaic introgression; High altitude; Natural selection
语种英语
来源期刊Proceedings of the National Academy of Sciences of the United States of America
文献类型期刊论文
条目标识符http://gcip.llas.ac.cn/handle/2XKMVOVA/238935
作者单位Department of Ecology and Evolutionary Biology, University of California, Los Angeles, CA 90095, United States; Department of Ecology and Evolutionary Biology, Brown University, Providence, RI 02912, United States; Center for Computational Molecular Biology, Brown University, Providence, RI 02912, United States; Department of Integrative Biology, University of California, Berkeley, CA 94720, United States; Center for Excellence in Animal Evolution and Genetics, Chinese Academy of Sciences, Kunming, 650223, China; Shanghai Institute of Nutrition and Health, University of Chinese Academy of Sciences, Chinese Academy of Sciences, Shanghai, 200031, China; State Key Laboratory of Genetic Engineering, Collaborative Innovation Center for Genetics and Development, School of Life Sciences, Fudan University, Shanghai, 200438, China; Globe Institute, University of Copenhagen, Copenhagen, DK-1165, Denmark
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GB/T 7714
Zhang X.,Witt K.E.,Bañuelos M.M.,et al. The history and evolution of the Denisovan-EPAS1 haplotype in Tibetans[J],2021,118(22).
APA Zhang X..,Witt K.E..,Bañuelos M.M..,Ko A..,Yuan K..,...&Huerta-Sanchez E..(2021).The history and evolution of the Denisovan-EPAS1 haplotype in Tibetans.Proceedings of the National Academy of Sciences of the United States of America,118(22).
MLA Zhang X.,et al."The history and evolution of the Denisovan-EPAS1 haplotype in Tibetans".Proceedings of the National Academy of Sciences of the United States of America 118.22(2021).
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